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Institut für Humangenetik der Universitätsmedizin Göttingen Institut für Humangenetik der Universitätsmedizin Göttingen
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Archives

Author Archive for: "KB"
Home » Archiv für KB
By KB
In Events, News
Posted 19. August 2025

2nd TRAIN Omics Days Lower Saxony 2025: Register now!

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By KB
In Gene of the Month
Posted 4. August 2025

Gene of the Month – July: APOE

APOE is not only a well-known risk gene for Alzheimer’s disease, but primarily an important regulator of the immune system—according to a study published in Nature Medicine. Apolipoprotein E [...]

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By KB
In News, Research
Posted 29. July 2025

MoReHealth Niedersachsen: Multi-Omics Initiative for Personalized Medicine

MoReHealth Niedersachsen is an innovative research project bringing the latest multi-omics research—meaning the simultaneous analysis and interpretation of different biological layers such as [...]

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By KB
In Gene of the Month
Posted 2. July 2025

Gene of the Month – June: ATM

The ATM serine/threonine protein kinase, encoded by the ATM gene, plays a crucial role in regulating the cell’s mechanisms to repair DNA damage, and mutations in ATM increase the risk of cancer [...]

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By KB
In Gene of the Month
Posted 3. June 2025

Gene of the Month – May: CPS1

Researchers have developed a pioneering, specific, personalized gene therapy for a newborn with a rare and life-threatening urea cycle metabolism disorder. This has been reported in the New [...]

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By KB
In Gene of the Month
Posted 2. May 2025

Gene of the Month – April: SLC7A11

SLC7A11 enables a slow proton efflux from lysosomes and thus plays a vital role in maintaining the acidic environment inside these cellular organelles. This has been demonstrated by a new study [...]

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By KB
In News, Research
Posted 9. April 2025

Identified heterozygous truncating SEC24C variants affect protein transport and glycosylation and cause previously undescribed syndrome with epilepsy, cataracts and anemia

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By KB
In Gene of the Month
Posted 1. April 2025

Gene of the Month – March – MED16

Researchers have uncovered a novel neurodevelopmental disorder featuring multiple congenital anomalies that is linked to variants in the MED16 gene. Published in the American Journal of Human [...]

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0
By KB
In
Posted 27. March 2025

InsightRP2

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By KB
In News, Research
Posted 17. March 2025

InsightRP2: First global patient registry for RP2-associated retinitis pigmentosa starts at UMG

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Institut für Humangenetik
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